DOLPP1

dolichyldiphosphatase 1
OMIM: 614516, Gene2Phenotype

1 panel

Panel	Reviews	Mode of inheritance	Details
Red DOLPP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Unknown	Sources Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)

Panel

Reviews

Mode of inheritance

Details

Red DOLPP1 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Paediatric disorders

review

Unknown

Sources

Expert Review Red

Phenotypes

Ceroid lipofuscinosis, neuronal, 3 (required for efficient N-glycosylation CDG with skeletal features)